| | LOC123480933, LOC123480934 +420 more | Copy number loss | See cases | |
| | LOC123493236, LOC123493237 +1310 more | Copy number gain | See cases | |
| | LOC132089056, LOC132089057 +1245 more | Copy number gain | See cases | |
| | LOC126807228, LOC126807229 +1102 more | Copy number gain | See cases | |
| | LOC129993256, LOC129993257 +1068 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 26 | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication | Bilateral sensorineural hearing impairment | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | GAB1, LOC126807172 (T199M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GAB1, LOC126807172 (A252S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GAB1, LOC126807172 (L270S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GAB1, LOC126807172 (S277N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GAB1, LOC126807172 (D281E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GAB1, LOC126807172 (D339N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | GAB1, LOC126807172 (S385G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel) | Autosomal recessive nonsyndromic hearing loss 26 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | GAB1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | | Single nucleotide variant (synonymous variant) | GAB1-related condition | |
| | FAM149A, FAM218A +197 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |